MCID: LCY001
MIFTS: 12

Lucey-Driscoll Syndrome malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Lucey-Driscoll Syndrome

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Aliases & Descriptions for Lucey-Driscoll Syndrome:

Name: Lucey-Driscoll Syndrome 48 27 68
Transient Familial Neonatal Hyperbilirubinemia 48 24
 
Transient Familial Hyperbilirubinemia 48

Classifications:



Summaries for Lucey-Driscoll Syndrome

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NIH Rare Diseases:48 Lucey-driscoll syndrome, a form of transient familial hyperbilirubinemia, is a rare metabolic disorder that leads to very high levels of bilirubin in a newborn's blood. babies with this disorder may be born with severe jaundice (yellow skin), yellow eyes and lethargy. it occurs when the body does not properly break down (metabolize) a certain form of bilirubin.  if untreated, this condition can cause seizures, neurologic problems (kernicterus) and even death. treatment for lucey-driscoll syndrome includes phototherapy with blue light (to treat the high level of bilirubin in the blood) and an exchange transfusion is sometimes necessary. different inheritance patterns have been reported and in some cases, it occurs in individuals with no family history of the condition. last updated: 11/15/2010

MalaCards based summary: Lucey-Driscoll Syndrome, also known as transient familial neonatal hyperbilirubinemia, is related to hyperbilirubinemia, familial transient neonatal. An important gene associated with Lucey-Driscoll Syndrome is UGT1A1 (UDP Glucuronosyltransferase Family 1 Member A1). Affiliated tissues include skin and eye.

Related Diseases for Lucey-Driscoll Syndrome

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Diseases related to Lucey-Driscoll Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hyperbilirubinemia, familial transient neonatal11.4

Symptoms & Phenotypes for Lucey-Driscoll Syndrome

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Drugs & Therapeutics for Lucey-Driscoll Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Lucey-Driscoll Syndrome

Genetic Tests for Lucey-Driscoll Syndrome

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Genetic tests related to Lucey-Driscoll Syndrome:

id Genetic test Affiliating Genes
1 Lucey-Driscoll Syndrome27

Anatomical Context for Lucey-Driscoll Syndrome

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MalaCards organs/tissues related to Lucey-Driscoll Syndrome:

36
Skin, Eye

Publications for Lucey-Driscoll Syndrome

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Variations for Lucey-Driscoll Syndrome

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Clinvar genetic disease variations for Lucey-Driscoll Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1UGT1A1UGT1A1*6SNVdrug responsers4148323GRCh37Chr 2, 234669144: 234669144

Expression for genes affiliated with Lucey-Driscoll Syndrome

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Search GEO for disease gene expression data for Lucey-Driscoll Syndrome.

Pathways for genes affiliated with Lucey-Driscoll Syndrome

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GO Terms for genes affiliated with Lucey-Driscoll Syndrome

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Sources for Lucey-Driscoll Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet